Causes factor XI deficiency in a recessive manner, with symptoms of increased susceptibility to bruising, bleeding, and nosebleeds. This variant appears to be a well-established cause of the disease and is common in patients with Ashkenazi Jewish ancestry. Asakai et al 1991 (PMID: 2052060) reports that about half of pathogenic variants found in patients with Ashkenazi Jewish ancestry are this variant, and the frequency of the variant is high in this ancestry (1 in 8 to 1 in 10 believed to be a carrier of this or another pathogenic variant).

Causes factor XI deficiency, causing increased bleeding and impaired clotting. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012667/), this effect seems to be well-established by literature and is found in patients with Ashkenazi ancestry. Asakai et al 1991 (PMID: 2052060) called this variant “Type III” and report it accounted for 47% of disease-causing alleles in 46 patients studied.